| Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ... PLoS genetics 10 (9), e1004580, 2014 | 671 | 2014 |
| Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental … C Shaw-Smith, R Redon, L Rickman, M Rio, L Willatt, H Fiegler, H Firth, ... Journal of medical genetics 41 (4), 241-248, 2004 | 645 | 2004 |
| A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2 RG Walters, S Jacquemont, A Valsesia, AJ De Smith, D Martinet, ... Nature 463 (7281), 671-675, 2010 | 632 | 2010 |
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011 | 559 | 2011 |
| GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction G Lesca, G Rudolf, N Bruneau, N Lozovaya, A Labalme, N Boutry-Kryza, ... Nature genetics 45 (9), 1061-1066, 2013 | 508 | 2013 |
| Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity CL Ku, H Von Bernuth, C Picard, SY Zhang, HH Chang, K Yang, ... The Journal of experimental medicine 204 (10), 2407-2422, 2007 | 491 | 2007 |
| Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders ML Jacquemont, D Sanlaville, R Redon, O Raoul, V Cormier-Daire, ... Journal of medical genetics 43 (11), 843-849, 2006 | 417 | 2006 |
| CHARGE syndrome: an update D Sanlaville, A Verloes European Journal of Human Genetics 15 (4), 389-399, 2007 | 373 | 2007 |
| A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ... Journal of medical genetics 49 (10), 660-668, 2012 | 331 | 2012 |
| Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ... The American Journal of Human Genetics 106 (3), 356-370, 2020 | 283 | 2020 |
| Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development D Sanlaville, HC Etchevers, M Gonzales, J Martinovic, M Clément-Ziza, ... Journal of medical genetics 43 (3), 211-317, 2006 | 263 | 2006 |
| Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation G Froyen, M Corbett, J Vandewalle, I Jarvela, O Lawrence, C Meldrum, ... The American Journal of Human Genetics 82 (2), 432-443, 2008 | 254 | 2008 |
| Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA P Edery, C Marcaillou, M Sahbatou, A Labalme, J Chastang, R Touraine, ... Science 332 (6026), 240-243, 2011 | 250 | 2011 |
| Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux W Lu, AM Van Eerde, X Fan, F Quintero-Rivera, S Kulkarni, H Ferguson, ... The American Journal of Human Genetics 80 (4), 616-632, 2007 | 247 | 2007 |
| GRIN2A-related disorders: genotype and functional consequence predict phenotype V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ... Brain 142 (1), 80-92, 2019 | 217 | 2019 |
| Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development S Benko, CT Gordon, D Mallet, R Sreenivasan, C Thauvin-Robinet, ... Journal of medical genetics 48 (12), 825-830, 2011 | 217 | 2011 |
| Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism G Lesca, G Rudolf, A Labalme, E Hirsch, A Arzimanoglou, P Genton, ... Epilepsia 53 (9), 1526-1538, 2012 | 208 | 2012 |
| Guidelines for molecular karyotyping in constitutional genetic diagnosis JR Vermeesch, H Fiegler, N De Leeuw, K Szuhai, J Schoumans, ... European Journal of Human Genetics 15 (11), 1105-1114, 2007 | 202 | 2007 |
| Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy C Mignot, C Von Stülpnagel, C Nava, D Ville, D Sanlaville, G Lesca, ... Journal of medical genetics 53 (8), 511-522, 2016 | 201 | 2016 |
| Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 N Bögershausen, V Gatinois, V Riehmer, H Kayserili, J Becker, ... Human mutation 37 (9), 847-864, 2016 | 194 | 2016 |